ClinVar for Gene (Select 134285) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326849	NM_173490.8(TMEM171):c.77T>G (p.Phe26Cys)	TMEM171 (F26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326848	NM_173490.8(TMEM171):c.834A>G (p.Ile278Met)	TMEM171 (I277M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178961	NM_173490.8(TMEM171):c.890C>T (p.Pro297Leu)	TMEM171 (P296L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178960	NM_173490.8(TMEM171):c.851C>T (p.Thr284Met)	TMEM171 (T283M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178959	NM_173490.8(TMEM171):c.786G>C (p.Arg262Ser)	TMEM171 (R262S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3178958	NM_173490.8(TMEM171):c.413C>G (p.Ser138Cys)	TMEM171 (S138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178957	NM_173490.8(TMEM171):c.269A>T (p.Gln90Leu)	TMEM171 (Q90L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178956	NM_173490.8(TMEM171):c.184G>T (p.Ala62Ser)	TMEM171 (A62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178955	NM_173490.8(TMEM171):c.119C>T (p.Ser40Phe)	TMEM171 (S40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2512520	NM_173490.8(TMEM171):c.535G>C (p.Val179Leu)	TMEM171 (V179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512422	NM_173490.8(TMEM171):c.121A>T (p.Ile41Phe)	TMEM171 (I41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489294	NM_173490.8(TMEM171):c.96G>T (p.Leu32Phe)	TMEM171 (L32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365071	NM_173490.8(TMEM171):c.179A>G (p.Lys60Arg)	TMEM171 (K60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351246	NM_173490.8(TMEM171):c.266T>C (p.Leu89Pro)	TMEM171 (L89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313068	NM_173490.8(TMEM171):c.296G>T (p.Arg99Leu)	TMEM171 (R99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310934	NM_173490.8(TMEM171):c.449C>T (p.Thr150Ile)	TMEM171 (T150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303011	NM_173490.8(TMEM171):c.382G>A (p.Val128Ile)	TMEM171 (V128I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280240	NM_173490.8(TMEM171):c.130T>C (p.Phe44Leu)	TMEM171 (F44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272161	NM_173490.8(TMEM171):c.416A>T (p.Asn139Ile)	TMEM171 (N139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254385	NM_173490.8(TMEM171):c.314A>C (p.Glu105Ala)	TMEM171 (E105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249421	NM_173490.8(TMEM171):c.647C>T (p.Ser216Leu)	TMEM171 (S216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244603	NM_173490.8(TMEM171):c.466C>G (p.Arg156Gly)	TMEM171 (R156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214107	NM_173490.8(TMEM171):c.257G>T (p.Arg86Leu)	TMEM171 (R86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 790401	NM_173490.8(TMEM171):c.459A>G (p.Ser153=)	TMEM171	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685724	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685723	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33